Canonical Allele Identifier: CA85691854

Gene: CLRN1

Linked Data

• dbSNP Id: rs998901872
• gnomAD v3: 3-150941819-A-G
• gnomAD v4: 3-150941819-A-G
• MyVariant Identifiers: chr3:g.150659606A>G (hg19) ; chr3:g.150941819A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941819A>G , CM000665.2:g.150941819A>G	GRCh38
NC_000003.11:g.150659606A>G , CM000665.1:g.150659606A>G	GRCh37
NC_000003.10:g.152142296A>G	NCBI36
NG_009168.1:g.36181T>C , LRG_700:g.36181T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.254-58T>C MANE Select	ENSP00000322280.1:n.254-58T>C
ENST00000468836.2:c.402-58T>C	ENSP00000419892.2:n.402-58T>C
ENST00000644099.1:c.246-58T>C	ENSP00000494762.1:n.246-58T>C
ENST00000295911.6:c.26-58T>C	ENSP00000295911.2:n.26-58T>C
ENST00000327047.5:c.254-58T>C	ENSP00000322280.1:n.254-58T>C
ENST00000328863.8:c.254-58T>C	ENSP00000329158.4:n.254-58T>C
ENST00000468836.1:c.26-58T>C	ENSP00000419892.1:n.26-58T>C
ENST00000472224.1:n.260-58T>C
ENST00000485607.1:c.-83-58T>C	ENSP00000419244.1:n.-83-58T>C
NM_001195794.1:c.254-58T>C , LRG_700t1:c.254-58T>C	NP_001182723.1:n.254-58T>C
NM_001256819.1:c.426-58T>C	NP_001243748.1:n.426-58T>C
NM_052995.2:c.26-58T>C , LRG_700t2:c.26-58T>C	NP_443721.1:n.26-58T>C
NM_174878.2:c.254-58T>C	NP_777367.1:n.254-58T>C
NR_046380.2:n.696-58T>C
XR_924167.1:n.566-58T>C
NM_001256819.2:c.426-58T>C	NP_001243748.1:n.426-58T>C
NM_174878.3:c.254-58T>C MANE Select	NP_777367.1:n.254-58T>C
NR_046380.3:n.424-58T>C